BC Children's Hospital Research Institute is pleased to congratulate the recipients of the 2018 Outstanding Achievement Awards and the 2018 BCCHR Studentships and Fellowships.
Dr. Nelson participates in a variety of clinical research focusing on both the discovery of underlying molecular mechanism of disease and on validation of new technologies and assays for implementation in the clinical molecular genetics laboratory.
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Sinclair GB, van Karnebeek CD, Ester M, Boyd F, Nelson T, Stockler-Ipsiroglu S, Vallance H
Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.
Tucker T, Steinraths M, Oh T, Nelson TN, Van Allen MI, Brown L, Schlade-Bartusiak K
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
Lerner-Ellis J, Wang M, White S, Lebo MS, Canadian Open Genetics Repository Group
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T
CCMG statement on direct-to-consumer genetic testing.
CCMG Ethics and Public Policy Committee, Nelson TN, Armstrong L, Richer J, Evans J, Lauzon J, McGillivray B, Bruyere H, Dougan S
Use of array genomic hybridization technology in prenatal diagnosis in Canada.
Duncan A, Langlois S, SOGC Genetics Committee, CCMG Prenatal Diagnosis Committee
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.
Schrader KA, Nelson TN, De Luca A, Huntsman DG, McGillivray BC
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
Huculak C, Bruyere H, Nelson TN, Kozak FK, Langlois S
Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion.
Hewitt J, Ballard JN, Nelson TN, Smith VC, Griffiths TA, Pritchard S, Wu JK, Wadsworth LD, Casey B, MacGillivray RT
Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63).
Kelly BL, Nelson TN, McMaster WR